C2, complement C2, 717

N. diseases: 71; N. variants: 39
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs9332739
rs9332739 		0.763 0.360 6 31936027 missense variant G/A;C snv 4.1E-06; 3.9E-02
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.860 1.000 8 2006 2018
dbSNP: rs558702
rs558702 		0.807 0.320 6 31902549 intron variant G/A snv 7.7E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.800 1.000 1 2014 2014
dbSNP: rs9380272
rs9380272 		1.000 0.040 6 31938233 intron variant G/A snv
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.800 1.000 1 2010 2010
dbSNP: rs9332739
rs9332739 		0.763 0.360 6 31936027 missense variant G/A;C snv 4.1E-06; 3.9E-02
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy 		Eye Diseases 0.710 1.000 2 2012 2012
dbSNP: rs644045
rs644045 		0.851 0.240 6 31916180 intron variant A/G snv 0.72
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.710 1.000 1 2017 2017
dbSNP: rs1042663
rs1042663 		0.925 0.160 6 31937353 synonymous variant G/A snv 9.7E-02 0.12
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 3 2007 2011
dbSNP: rs2734335
rs2734335 		1.000 0.120 6 31926167 intron variant G/A snv 0.53
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 3 2007 2011
dbSNP: rs550605
rs550605 		0.925 0.160 6 31939370 intron variant T/C snv 9.7E-02 0.12
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 3 2007 2011
dbSNP: rs659445
rs659445 		0.882 0.160 6 31896527 intron variant G/A;C snv 0.77 0.76
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 3 2007 2011
dbSNP: rs151340617
rs151340617 		1.000 6 31943254 missense variant G/A snv 8.1E-06 1.4E-05
CUI: C3150275
Disease: COMPLEMENT COMPONENT 2 DEFICIENCY
COMPLEMENT COMPONENT 2 DEFICIENCY 		0.700 1.000 2 1996 1998
dbSNP: rs28934590
rs28934590 		1.000 6 31933876 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C3150275
Disease: COMPLEMENT COMPONENT 2 DEFICIENCY
COMPLEMENT COMPONENT 2 DEFICIENCY 		0.700 1.000 2 1996 1998
dbSNP: rs558702
rs558702 		0.807 0.320 6 31902549 intron variant G/A snv 7.7E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 2 2007 2011
dbSNP: rs558702
rs558702 		0.807 0.320 6 31902549 intron variant G/A snv 7.7E-02
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 2 2008 2012
dbSNP: rs685031
rs685031 		1.000 0.040 6 31913954 intron variant G/A;T snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 2 2018 2018
dbSNP: rs760744400
rs760744400 		1.000 6 31928867 missense variant G/A snv 4.0E-06 2.1E-05
CUI: C3150275
Disease: COMPLEMENT COMPONENT 2 DEFICIENCY
COMPLEMENT COMPONENT 2 DEFICIENCY 		0.700 1.000 2 1996 1998
dbSNP: rs1042663
rs1042663 		0.925 0.160 6 31937353 synonymous variant G/A snv 9.7E-02 0.12
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1042663
rs1042663 		0.925 0.160 6 31937353 synonymous variant G/A snv 9.7E-02 0.12
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.700 1.000 1 2012 2012
dbSNP: rs114508013
rs114508013 		6 31900988 synonymous variant G/A snv 1.8E-02 1.8E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs115884658
rs115884658 		1.000 0.080 6 31896761 missense variant G/A snv 1.5E-02 1.2E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs116385615
rs116385615 		1.000 0.040 6 31913532 intron variant T/C snv
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs116385615
rs116385615 		1.000 0.040 6 31913532 intron variant T/C snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs116477171
rs116477171 		6 31918153 intron variant C/G;T snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs116477171
rs116477171 		6 31918153 intron variant C/G;T snv
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2018 2018
dbSNP: rs116477171
rs116477171 		6 31918153 intron variant C/G;T snv
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs118097312
rs118097312 		6 31898356 intron variant A/C snv 2.5E-03
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2018 2018